Methods and compositions for the prevention or treatment of Barth Syndrome

Abstract

The disclosure provides methods of preventing or treating Barth Syndrome in a mammalian subject, reducing risk factors associated with Barth Syndrome, and/or reducing the likelihood or severity of Barth Syndrome. The methods comprise administering to the subject an effective amount of an aromatic-cationic peptide to increase expression of TAZ1 in subjects in need thereof.

What is claimed is: 
     
       1. A method for reducing the number of mitochondria with abnormal mitochondrial ultrastructure, ameliorating abnormal mitochondrial ultrastructure, or maintaining mitochondrial organization in a subject having Barth Syndrome, comprising administering to the subject a therapeutically effective amount of the peptide D-Arg-2′6′-Dmt-Lys-Phe-NH 2  or a pharmaceutically acceptable salt thereof. 
     
     
       2. The method of  claim 1 , wherein the peptide is administered daily for 6 weeks or more. 
     
     
       3. The method of  claim 1 , wherein the peptide is administered daily for 12 weeks or more. 
     
     
       4. The method of  claim 1 , wherein the subject is human. 
     
     
       5. The method of  claim 1 , wherein the peptide is administered orally, topically, systemically, intravenously, subcutaneously, intraperitoneally, or intramuscularly. 
     
     
       6. The method of  claim 1 , further comprising separately, sequentially or simultaneously administering a cardiovascular agent to the subject. 
     
     
       7. The method of  claim 6 , wherein the cardiovascular agent is selected from the group consisting of: an anti-arrhythmia agent, a vasodilator, an anti-anginal agent, a corticosteroid, a cardioglycoside, a diuretic, a sedative, an angiotensin converting enzyme (ACE) inhibitor, an angiotensin II antagonist, a thrombolytic agent, a calcium channel blocker, a throboxane receptor antagonist, a radical scavenger, an anti-platelet drug, a β-adrenaline receptor blocking drug, an α-receptor blocking drug, a sympathetic nerve inhibitor, a digitalis formulation, an inotrope, and an antihyperlipidemic drug. 
     
     
       8. The method of  claim 1 , wherein the pharmaceutically acceptable salt comprises acetate or trifluoroacetate salt.